Canonical Allele Identifier: CA375499974
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765077G>T , CM000671.2:g.135765077G>T GRCh38
NC_000009.11:g.138656923G>T , CM000671.1:g.138656923G>T GRCh37
NC_000009.10:g.137796744G>T NCBI36
NG_033070.1:g.67893G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1082G>T MANE Select ENSP00000360822.2:p.Gly361Val
ENST00000674572.1:c.923G>T ENSP00000501742.1:p.Gly308Val
ENST00000675090.1:c.830G>T ENSP00000501833.1:p.Gly277Val
ENST00000675399.1:c.830G>T ENSP00000501932.1:p.Gly277Val
ENST00000676421.1:c.839G>T ENSP00000502322.1:p.Gly280Val
ENST00000263604.5:c.983G>T ENSP00000263604.4:p.Gly328Val
ENST00000371757.6:c.1082G>T ENSP00000360822.2:p.Gly361Val
ENST00000460750.5:c.*692G>T ENSP00000418777.1:n.*692G>T
ENST00000486577.6:c.965G>T ENSP00000417578.3:p.Gly322Val
ENST00000487664.5:c.1082G>T ENSP00000417851.2:p.Gly361Val
ENST00000488444.6:c.1025G>T ENSP00000419007.3:p.Gly342Val
ENST00000490355.6:c.1025G>T ENSP00000418003.3:p.Gly342Val
ENST00000490363.3:n.901G>T
ENST00000491806.6:c.1025G>T ENSP00000419086.3:p.Gly342Val
ENST00000628528.2:c.947G>T ENSP00000486374.1:p.Gly316Val
ENST00000630792.2:c.923G>T ENSP00000486486.1:p.Gly308Val
ENST00000631073.2:c.1025G>T ENSP00000486130.1:p.Gly342Val
NM_001272003.1:c.947G>T NP_001258932.1:p.Gly316Val
NM_020822.2:c.1082G>T NP_065873.2:p.Gly361Val
XM_011518877.1:c.1217G>T XP_011517179.1:p.Gly406Val
XM_011518878.1:c.1226G>T XP_011517180.1:p.Gly409Val
XM_011518879.1:c.1217G>T XP_011517181.1:p.Gly406Val
XM_011518880.1:c.983G>T XP_011517182.1:p.Gly328Val
XM_011518881.1:c.572G>T XP_011517183.1:p.Gly191Val
XM_011518877.3:c.1217G>T XP_011517179.1:p.Gly406Val
XM_011518878.3:c.1226G>T XP_011517180.1:p.Gly409Val
XM_011518879.3:c.1217G>T XP_011517181.1:p.Gly406Val
XM_011518881.3:c.572G>T XP_011517183.1:p.Gly191Val
XM_017014931.1:c.1016G>T XP_016870420.1:p.Gly339Val
XM_017014932.1:c.839G>T XP_016870421.1:p.Gly280Val
XM_017014933.1:c.572G>T XP_016870422.1:p.Gly191Val
XM_024447617.1:c.572G>T XP_024303385.1:p.Gly191Val
XM_024447618.1:c.572G>T XP_024303386.1:p.Gly191Val
NM_020822.3:c.1082G>T MANE Select NP_065873.2:p.Gly361Val
NM_001272003.2:c.947G>T NP_001258932.1:p.Gly316Val